Sunday, November 11, 2018

Long-term control of #AbdominalPain related to POTS: two case reports in #pediatrics.

Friday, August 31, 2018

Initiating joint attention use in infants at high-risk for spectrum disorder. Brewe AM1, Reisinger DL1, Adlof SM2, Roberts JE1.

Perceived social support and quality of life of parents of children with Autism.

Early childhood behavioral features that discriminate from other developmental problems in Japan. Okuno M1, Uehara T2.
Supporting and hindering environments for participation of #adolescents diagnosed with #autism spectrum disorder: A scoping review.
Krieger B1,2, Piškur B3, Schulze C1, Jakobs U1, Beurskens A2,3, Moser A2,3.

Genome-Wide Association Study and Identification of Chromosomal Enhancer Maps in Multiple Brain Regions Related to Autism Spectrum Disorder.

Zhang L1Liu L1Wen Y1Ma M1Cheng S1Yang J2Li P1Cheng B1Du Y1Liang X1Zhao Y1Ding M1Guo X1Zhang F1.
#Neural evidence for reduced automaticity in processing emotional prosody among men with high levels of #autistic traits.
Lui M1, So WC2, Tsang YK3.
#Neuroimmune Alterations in Autism: A Translational Analysis Focusing on the Animal Model of #Autism Induced by #Prenatal Exposure to Valproic Acid.
Deckmann I1,2,3, Schwingel GB1,2,3, Fontes-Dutra M1,2,3, Bambini-Junior V1,3,4, Gottfried C1,2,3.
Early Disruption of the #Microbiome Leading to Decreased #Antioxidant Capacity and Epigenetic Changes: Implications for the Rise in #Autism.
Eshraghi RS1, Deth RC2, Mittal R3, Aranke M3, Kay SS4, Moshiree B1, Eshraghi AA3.
#Parental Burden and its Correlates in Families of #Children with #Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups.
Picardi A1, Gigantesco A1, Tarolla E2, Stoppioni V3, Cerbo R4, Cremonte M5, Alessandri G6, Lega I7, Nardocci F8,9.
Brief Report: Typical Auditory-Motor and Enhanced Visual-Motor Temporal Synchronization in #Adults with #Autism Spectrum Disorder.
Edey R1, Brewer R2, Bird G3, Press C4.

Wernicke's encephalopathy in a child with autism during chemotherapy for T-cell acute leukemia.

Zensho K1, Ishida H2, Nagai H1, Tsukahara H1, Shimada A2.
Examining the inclusion of diverse participants in #cognitive behavior therapy research for youth with #autism spectrum disorder and anxiety.
Pickard K1, Reyes N1, Reaven J1.
Effect of the #autism-associated lncRNA Shank2-AS on architecture and growth of #neurons.
Luo T1,2, Liu P3, Wang XY4, Li LZ1, Zhao LP1, Huang J1, Li YM1, Ou JL1, Peng XQ5.
#Autism and the right to education in the EU: Policy mapping and scoping review of the United Kingdom, France, Poland and Spain.
Roleska M1, Roman-Urrestarazu A1,2,3, Griffiths S3, Ruigrok ANV3, Holt R3, van Kessel R1, McColl K4, Sherlaw W4, Brayne C2, Czabanowska K1,5
Regulatory #genes and pathways disrupted in #autism spectrum #disorders.
Ayhan F1, Konopka G2.


Autism spectrum disorder (ASD) is a highly prevalent and complex genetic disorder. The complex genetic make-up of ASD has been extensively studied and both common and rare genetic variants in up to 1000 genes have been linked to increased ASD risk. While these studies highlight the genetic complexity and begin to provide a window for delineating pathways at risk in ASD, the pathogenicity and specific contribution of many mutations to the disorder are poorly understood. Defining the convergent pathways disrupted by this large number of ASD-associated genetic variants will help to understand disease pathogenesis and direct future therapeutic efforts for the groups of patients with distinct etiologies. Here, we review some of the common regulatory pathways including chromatin remodeling, transcription, and alternative splicing that have emerged as common features from genetic and transcriptomic profiling of ASD. For each category, we focus on one gene (CHD8, FOXP1, and RBFOX1) that is significantly linked to ASD and functionally characterized in recent years. Finally, we discuss genetic and transcriptomic overlap between ASD and other neurodevelopmental disorders.
Background cortisol versus Social Anxiety as correlates of HPA-axis recovery from stress in boys with #Autism Spectrum #Disorder.
Bitsika V1, Sharpley CF2, McMillan ME2, Agnew LL2.


Children with Autism Spectrum Disorder (ASD) show dysregulation of the expected Hypothalamus-Pituitary-Adrenal (HPA) axis and elevated cortisol responses to stress and response patterns, but little has been reported regarding their recovery from stress in terms of cortisol concentrations. This response was investigated in a sample of 32 young males with ASD aged between 9 and 18 years (M = 14.3 yr, SD = 2.7 yr), using a standardised experimental protocol combined with individualised stressor and non-stressor tasks. Results indicated that about half of the sample demonstrated unexpected HPA axis response patterns, and that recovery from stress cortisol concentrations were significantly associated with a single symptom of Social Phobia and Morning cortisol. These findings suggest that one of the key diagnostic criteria for ASD may be strongly influential in the HPA axis responses of boys with ASD and that training regimes to assist them to form less fearful associations with their non-ASD peers may be central to the academic and social progress of these boys.

Monday, August 27, 2018

#Pediatric #Ileocolic #Intussusception Caused by Introducing Solid Food Before 6 Months Old: A Case Report

Patricia Yulita Gunawan*
Department of Child Health, University of Pelita Harapan, Banten, Indonesia

A 7-months-old girl presented with bloody diarrhea and vomiting. She had been fed with red rice since she was 5 months old. She was restless, defecated red currant jelly stool and sausage-shaped mass was palpable on the inferior of umbilical region. The ultrasound showed a 3.16 × 2.58 cm mass with a target-like appearance which is consistent with intussusception. She underwent exploratory laparotomy, invagination release (milking) and appendectomy. Pathologic examination of the lymph node on the mesenteric side of caecum revealed lymphoid tissue hyperplasia. The introduction to solid food before 6 months in this patient was suspected as the predisposing factor of the intussusception. More effective counseling about the timing of solid food introduction by pediatrician or primary health care provider may prevent other similar cases like this from happening.
Keywords: Intussusception; Pediatric; Solid food
The Expression of Migration Inhibitory Factor mRNA in Peripheral Blood of #Children with Systemic Lupus #Erythematosus
Shereen Medhat Reda1, Shereen Saad El-Sayed1, Shereen Bendary El-Sayed2 and Sameh Alfons Felix1,3*


Aim: This study was aiming at evaluation of the importance and the change in the level of macrophage migration inhibitory factor (MIF) in serum studied by ELISA and in peripheral blood mononuclear cell (PMBC) through the expression of mRNA of MIF studied by reverse PCR and its correlation with disease activity index in patients with systemic lupus erythematosus (SLE). Also, the relationship of MIF with the treatment by corticosteroids and renal involvement was taken into consideration.
Material and methods: For this purpose, twenty lupus patients, regularly attending the Pediatric Allergy and Immunology Clinic, Children Hospital, Ain Shams University and fulfilling the American Rheumatism Association Revised Criteria for diagnosis of SLE, were studied in comparison to thirty-five healthy subjects as normal controls. According to the presence or absence of clinical renal involvement, lupus patients were divided into two groups: Group Ia: included 10 patients with clinical renal involvement and Group Ib: comprised 10 patients without clinical renal involvement. Full history taking and clinical examination were done and the SLEDAI was assessed. Also, the following laboratory investigations were performed ESR, routine microscopic urine analysis, 24 hours urine proteins, serum ANA, C3, serum anti-DNA, serum creatinine, serum MIF by ELISA and MIF gene expression through the mRNA in PBMC by rPCR.
Results: The results of the present study showed that the MIF in serum and in PBMC were significantly higher among lupus patients as compared to normal controls. In addition, both were significantly higher among lupus patients with clinically evident nephritis than those without. Serum MIF and MIF gene expression were both significantly higher among lupus patients who suffered from symptoms suggestive of lupus nephritis as edema, hematuria, hypertension and positive anti DNA levels than other patients who did not experience these symptoms. In our study, different correlation analysis were done with serum MIF and MIF gene expression and proved to be significantly positive with SLEDAI score, ESR, cumulative dose of steroids, serum creatinine, 24 hour urinary protein and duration of illness in all lupus patients.
Conclusions: In conclusion, MIF both in the serum and MIF gene expression by reverse PCR in macrophages were significantly higher in all lupus patients in comparison to healthy controls being significantly higher in those lupus patients with clinically evident nephritis than those without. Also MIF had a significant positive correlation to SLEDAI score and ESR indicating its correlation with disease activity.

#Parent Satisfaction of Occupational Therapy Interventions for #Pediatrics

Caitlin M Moll, Meghan N Billick* and Kristin A Valdes
Department of Occupational Therapy, Gannon University, Pennsylvania, USA


Purpose: This review seeks to identify the tools used to determine parent satisfaction with OT interventions for a variety of pediatric conditions. The purpose of this review was to explore whether the research on the effectiveness of OT interventions for children has addressed the important concept of parent satisfaction. There is limited OT research that evaluates parent satisfaction in pediatrics. Greater parent satisfaction with OT services results in better treatment adherence for pediatric care.
Design: A scoping review.
Methods: Five studies met the inclusion criteria. In total, there were 139 participants within the five studies that were examined. Five studies explored parent satisfaction as an outcome measure of OT interventions for pediatric populations. Assessment methods and findings were extracted from the selected studies. Information regarding the assessment tools used to determine parent satisfaction was extracted. Also extracted were the results of the satisfaction assessments used by the studies.
Results: The study designs included four qualitative studies and one randomized control trial. Tools used to measure parent satisfaction, included the MPOC-20, MPOC-56, COPM, GAS and the CSQ. Best practice for OT's include, facilitating goal setting with clients and communicating efficiently with parents, allowing them to ask questions for comprehension of the clinical aspects, explaining the child's procedures and providing follow up time to discuss improvements or setbacks.
Conclusion: The studies reviewed suggest there may be value in understanding parent consideration and working as a cohesive, interdisciplinary team for the overall benefit of a child.
Discussion: To provide optimal holistic care to pediatric patients, cooperation with the parents can be an asset to the therapeutic process. Parents can be OTs advocates regarding health care for their children.

Early Use of Vojta Therapy in Children with Postural Asymmetry, at Risk of Hip Dysplasia

Artur Edward Polczyk*


Hip dislocation occurs in 1.5% of new-born babies. Symptoms of dysplastic hip are often connected with infant’s asymmetrical body posture, psychomotor delay and muscular tone dysfunction. Orthopedic supplies improve the positioning of the femur head in acetabulum but do not solve or even make worse the asymmetry, support functions and muscle tonus problems. This study presents 3 different cases of patients with such symptoms which has the Vaclav Vojta neurophysiological stimulation as based or supplemental treatment. The results are supported by ultrasonographic studies and evaluation of the spontaneous motility of the child in subsequent weeks of treatment. The use of the Vojta method is a helpful complement to the treatment of dislocated, unstable and dysplastic hips.
Effectiveness of #Behaviour Modification Strategies in School Going #Children for Specific Classroom Behaviour
Ashu Sharma1, Mandar Malawade2* and Sheila Shrikhande1


Background: It has been seen that normal children have some behavioural problems that may affect their academic performance, despite of having no disability. The prevalence of such behaviour problems in children is alarmingly high. The number of affected children and adolescents is still staggering. Specially, in set ups where, there are very less number of teachers available for students, who are unable to pay attention on these behavioural issues of children. Thus, these problems are been overlooked, which in long run can create difficulties in shaping the future of the children. Hence, there is a need to pay attention by helping the children with the behavioural problems. There are some studies which show that behaviour therapy works to change problematic behaviours in children. Thus these strategies will help the children to change their specific behavioural problems and adapt to the social environment more efficiently.
Methodology: 78 participants were examined for the study. Their particular problematic behaviours were selected and the interventions for them were set. Intervention was given for a period of 8 weeks, twice per week and the session lasted for a period of 40-45 minutes. Daily assessment was taken on time sampling and frequency recording forms. Behaviour Modification was applied.
Results: Baseline data of Time sampling and frequency recording was collected and recorded on the first day before starting the intervention then at fourth week and then at eighth week. The results for the study were analysed through comparison of the results at baseline, fourth week and eighth week readings. The percentage increase or decrease in the behaviours was recorded according to the time sampling and frequency recording
Conclusion: Behaviour Modification Strategies are effective technique to reduce problem behaviours shown by students in the classroom.

Latrogenic Vascular Injury: Arteriovenous Fistula in #NICU Neonates

Keon Kuk KimSang Tae Choi*Jin Mo KangYoungSoon ChunYoo Seung ChungHeung Gyu ParkJun Hyoub LeeYeon Ho Park and Young Kim
The Department of Surgery, Gil Medical Center, Gachon University College of Medicine, Seongnam, Incheon, South Korea

Polyethylene Glycols with or without Electrolytes for Constipation in Children: A Network Meta-Analysis

Noel Cranswick*Peter KatelarisVasi NaganathanJohn GullottaGeorge Krassas and Ken Liu
Department of Clinical Pharmacology, Royal Children’s Hospital, Parkville VIC, Australia


Background: Polyethylene glycol laxatives are the cornerstone of the management of constipation in children. They are available with and without electrolytes.
Aims: The aims of this network meta-analysis (NMA) were to assess the relative efficacy, safety and tolerability of polyethylene glycol with (PEG+E) or without electrolytes (PEG) in the management of constipation in children.
Methods: A systematic review and NMA was undertaken to identify and analyse all published randomised controlled clinical trials of polyethylene glycol in children with constipation. Text word searches were carried out using MEDLINE, MEDLINE in Progress, EMBASE, Cochrane Database and Systematic Reviews databases covering inception to April 2015. The primary efficacy analysis was the mean number of bowel movements per week. Secondary endpoints assessed safety, tolerability and compliance.
Results: 15 studies (involving 1,384 patients) were included in the NMA. PEG and PEG+E are both more effective than placebo, increasing the mean number of bowel movements per week by 2.3 (95% Crl 0.3, 4.4) and 2.2 (95% Crl 0.1, 4.7) respectively. Direct comparison of PEG+E with PEG identified no differences in efficacy, safety, or tolerability, with the exception of one study demonstrating better tolerability with PEG. Compared to PEG+E, PEG was easier to take, with a trend towards improved compliance.
Conclusion: This NMA provides no evidence to support the clinical utility of added electrolytes to polyethylene glycol in the management of constipation in children. PEG alone is as effective as PEG+E and both therapies are well tolerated. This analysis supports the ongoing use of polyethylene glycol as a first-line treatment of constipation in children. Formulations without electrolytes should be considered first to optimize patient acceptability and adherence.

Few Facts: A Premature Baby and Common Problems

Dipti Yashwantrao Sorte*


The following conditions may occur with premature babies. This does not mean that the baby will surely develop these conditions.
Haemophagocytic lymphohistiocytosis (HLH) is a rare disease in blood related condition with a sepsis-like progression that leads to multiple organ dysfunction syndromes, especially in preterm infants. In Anemia Haemophagocytic lymphohistiocytosis (HLH) is a rare disease with a sepsis-like progression that leads to multiple organ dysfunction syndrome, especially in preterm infants [1]. Hematic cells are responsible for carry oxygen around the body. Babies can get anemic for a variety of reasons, but the common causes are making few new red blood cells in the first few weeks of life, shorter life of red blood cells than that of adults and taking blood for different blood tests.
Anemia is responsible for 20% of maternal mortality worldwide, and it is associated with premature birth, low birth weight, and infant mortality [2]. Anemia may not always need to be treated especially if your baby is not sick. Eventually your baby will make more red blood cells, and as they grow, may be given an additional source of iron to assist the body to make red blood cells. If the anemia needs to be treated this is usually by a transfusion of red blood cells. This blood is obtained from blood bank where it has been meticulously screened.
Apnea is a pause in breathing that usually lasts for longer than 15-20 seconds, usually associated with baby’s color changing and a slowing of the heart rate to less than 100 beat per min (bradycardia).
In premature babies in particular, they have an immature respiratory centre in the brain. As the baby grows their breathing will become more regular and therefore apneas will occur less and less. Apneas may also be caused or increased by other situations eg., infection, insufficient oxygen and unstable temperatures to name a few.
Baby may only require some stimulation or medication to stimulate their breathing. If apneas are worsening then they may require assistance with their breathing, ranging from CPAP to mechanical ventilation.
Apnea of prematurity is a result of immaturity. Once baby gets older the apneas resolve, and will not return. If they continue to have pauses in breathing it may be due to some other problem which will be investigated. Necrotizing enterocolitis (NEC) is a severe intestinal disease of premature infants with high mortality. Studies suggest a causative relationship between red blood cell (RBC) transfusion and NEC; however, whether RBC transfusion leads to worse outcomes in NEC is unknown [3].
Jaundice is a yellow color of the skin and whites of the eyes in newborn babies. The yellow color is due to the presence of bilirubin. Bilirubin is produced when red blood cells get old and are broken down by the body. Normally this is done in the liver and then placed in the intestine so it can come out in the stool. Hyperbilirubinemia is a common neonatal condition requiring timely management to prevent acute bilirubin encephalopathy [4].
Babies who are more likely to become jaundiced are premature babies due to immature organs and Babies with a different blood type from their mother.
Low and moderate levels of jaundice are not harmful. Very high levels can be harmful, and may cause braindamage. Baby’s bilirubin level will be tested if they become jaundiced, by taking a small amount of blood from a heel prick. This test may be referred to as an SBR or bilirubin level.
Neonatal hyperbilirubinemia is a common reason for neonates to present to the emergency department (ED) [5]. Although clinical practice guidelines provide recommendations for evaluation and therapy, few studies have evaluated ways to apply them effectively in the ED setting. If the bilirubin level is high enough to need treatment, baby will be undressed and placed under phototherapy lights or on a phototherapy blanket in an incubator. This light is a high intensity light that helps break down the bilirubin in the skin. The eyes of the baby will be covered to protect them from so much light.
Phototherapy will continue until the bilirubin level has reached a safe level, usually only a few days but sometimes may be for more than a week.
If baby's bilirubin gets close to harmful levels, the doctor can do an Exchange Transfusion. This procedure involves replacing the baby's blood containing bilirubin with blood from blood bank.
Acute respiratory distress syndrome (ARDS) is a devastating clinical syndrome whose diagnosis and therapy are still in question [6]. Acute respiratory distress syndrome (ARDS) is a life-threatening form of respiratory failure that affects approximately 200 000 patients each year in the United States, resulting in nearly 75,000 deaths annually. Globally, ARDS accounts for 10% of intensive care unit admissions, representing more than 3 million patients with ARDS annually [7]. Respiratory Distress Syndrome (RDS) is the most common lung disease of premature infants, due to their incomplete lung development and insufficient Surfactant in the lungs.
Babies with RDS may display the characteristics like rapid breathing, retractions or pulling in of the ribs and centre of the chest with each breath, grunting and flaring or widening of the nostrils with each breath.
If the disease has been severe possible problems in the future, it may show the characteristics like increased severity of colds or other respiratory infections, particularly in the first few years, increased sensitivity to such irritants as smoke and pollution, greater likelihood of wheezing or other asthma-like problems in childhood and May have injury or scarring of the lungs if the RDS was severe, called Bronchopulmonary Dysplasia (BPD).
Despite several decades of research into treatments for patent ductus arteriosus (PDA), there is continued uncertainty regarding whether, when, and how best to treat PDA and the long-term consequences [8]. This problem is fairly common in premature babies, but is rare in babies born at term. The incidence tends to decrease as the birth weight and gestational age increases.
Treatment of a haemodynamically significant patent ductus arteriosus (PDA) in the very preterm infant has been an accepted approach for several decades. However, the rationale for closure of PDA has recently been challenged due to reports of success with conservative approaches and the lack of evidence for longer-term benefits from treatment. In this article, we address an approach to assess treatment of those babies most likely to benefit [9].
Gastroesophageal reflux disease (GERD) is a common problem in neonatology. Various physiological protective reflex responses provide a plausible biological link between gastro-esophageal reflux and apnea and bradycardia in premature. Many babies bring up some milk or are slightly sick after a feed. Reflux occurs quite frequently in premature babies because their muscle tone is not strongly developed.
Not all babies who develop reflux will be sick in this way. This makes it harder for doctors and nurses to diagnose. Listening to the history of the symptoms and signs displayed by the baby, often gives the doctors and nurses clues to whether reflux is occurring.
Babies with reflux may show the characteristics like frequent vomiting after a feed, back arching due to reflux of the acidic stomach contents into the food tube (esophagus), crying, restlessness and failure to gain weight or weight loss, due to the constant vomiting of feeds.
Babies with reflux but who are not vomiting may display characteristics like arching of their back, screaming and crying, going off feeding, fighting the teat and frequent feeding - i.e. taking only small amounts approximately an ounce of feed nearly every hour.
Other tests may be carried out to assist in the diagnosis of reflux. One such test is a barium swallow, which requires a series of x-rays. This may not show anything if the reflux was not occurring at the time of the x-ray [10].
Treatment will depend on the severity of the reflux and how much trouble caused to the baby.

Wednesday, August 22, 2018

Using the Palliative Performance Scale to Estimate Survival for #Patients at the End of Life: A Systematic Review of the Literature.
Baik D1, Russell D2, Jordan L3, Dooley F3, Bowles KH4, Masterson Creber RM5.
Diagnostic Performance of Tc-99m MIBI for Differentiation of Malignant #Thyroid Nodules; A Systematic Review and Meta-analysis.
Kim SJ1, Lee SW2, Jeong SY3, Pak K4, Kim K5.
Risk Factors Associated With Low Back #Pain in Golfers: A Systematic Review and Meta-analysis.
Smith JA1, Hawkins A2, Grant-Beuttler M1, Beuttler R3, Lee SP4.

Voriconazole exposure and risk of cutaneous squamous cell carcinoma among lung or hematopoietic cell transplant patients: A systematic review and meta-analysis.

Tang H1Shi W2Song Y1Han J3.



Current evidence about the association between voriconazole and risk of cutaneous squamous cell carcinoma (SCC) remains inconsistent.


To assess the association between voriconazole use and risk of SCC.


We systematically searched PubMed and Embase and performed a random effects model meta-analysis to calculate the pooled relative risk (RR) with 95% confidence interval (CI).


Of the 8 studies involving 3,710 individuals with lung transplant (LT) or hematopoietic cell transplant (HCT) included in qualitative analysis, five studies were included in the meta-analysis. Use of voriconazole was significantly associated with increased risk of SCC (RR, 1.86; 95% CI, 1.36 - 2.55). The increased risk did not differ according to type of transplantation or adjustment for sun exposure. Longer duration of voriconazole was found to be positively associated with risk of SCC (RR, 1.72; 95% CI, 1.09 - 2.72). Voriconazole use was not associated with increased risk of basal cell carcinoma (RR, 0.84; 95% CI, 0.41 - 1.71).


There were some heterogeneities in retrospective observational studies.


Our findings support an increased risk of SCC associated with voriconazole in individuals with LT or HCT. Routine dermatologic surveillance should be performed, especially among individuals at high risk of developing SCC.

Expression of biological mediators during orthodontic tooth movement: A systematic review.



The aim of the present systematic review was to offer a timeline of the events taking place during orthodontic tooth movement(OTM).


Electronic databases PubMed, Web of Science and EMBASE were searched up to November 2017. All studies describing the expression of signaling proteins in the periodontal ligament(PDL) of teeth subjected to OTM or describing the expression of signaling proteins in human cells of the periodontal structures subjected to static mechanical loading were considered eligible for inclusion for respectively the in-vivo or the in-vitro part. Risk of bias assessment was conducted according to the validated SYRCLE's RoB tool for animal studies and guideline for assessing quality of in-vitro studies for in-vitro studies.


We retrieved 7583 articles in the initial electronic search, from which 79 and 51 were finally analyzed. From the 139 protein investigated, only the inflammatory proteins interleukin(IL)-1β, cyclooxygenase(COX)-2 and prostaglandin(PG)-E2, osteoblast markers osteocalcin and runt-related transcription factor(RUNX)2, receptor activator of nuclear factor kappa-B ligand(RANKL) and osteoprotegerin(OPG) and extracellular signal-regulated kinases(ERK)1/2 are investigated in 10 or more studies.


The investigated proteins were presented in a theoretical model of OTM. We can conclude that the cell activation and differentiation and recruitment of osteoclasts is mediated by osteocytes, osteoblasts and PDL cells, but that the osteogenic differentiation is only seen in stem cell present in the PDL. In addition, the recently discovered Ephrin/Ephs seem to play an role parallel with the thoroughly investigated RANKL/OPG system in mediating bone resorption during OTM.
Immune-related adverse events from combination #immunotherapy in #cancer patients: A comprehensive meta-analysis of randomized controlled trials.
Zhang B1, Wu Q1, Zhou YL2, Guo X1, Ge J1, Fu J1.

"The Adrenal Gland: Central Relay in Health and Disease - Current Challenges and Perspectives 2018" - Cushing's Disease.


Despite advances in diagnostic and therapeutic approach, Cushing's disease (CD) presents a challenging situation for the treating physician.


To elucidate current challenges, present strengths and pitfalls of existing diagnostic tests, enlighten the need for new diagnostic approaches, appraise the effects of surgery and available pharmacological agents and identify future perspectives regarding CD.


Systematic search to PubMed and Medline databases for publications mainly over the last five years.


Mutations in the ubiquitin specific peptidase 8 gene have been recently identified in functional sporadic corticotroph adenomas causing CD. Since the prevalence of obesity and metabolic syndrome is rapidly increasing, new diagnostic tests are necessary to differentiate these conditions. Next to the traditional tests, a cutoff of preoperative ACTH/cortisol ratio, an ultrasensitive late night salivary cortisol assay and the desmopressin test have been suggested as valid tools for the diagnosis and differential diagnosis of CD. Transsphenoidal surgery with variable remission and recurrence rates presents the treatment of choice for CD. Medical therapy consists of adrenal-targeted drugs e. g. ketoconazole, metyrapone, etomidate and mitotane and pituitary-targeted drugs e. g. pasireotide, cabergoline and retinoic acid.


CD is associated to a significant clinical burden, since numerous comorbidities persist after long-term biochemical control. These chronically ill patients show an increased mortality despite disease remission. Clinicians should treat comorbidities aggressively and seek for appropriate consultations. Structured consultation hours and expert excellence networks are needed in order to allow optimal, individualized care for affected patients, reverse increased morbidity and mortality and identify tumor recurrence early.

Thursday, August 16, 2018

False positive screen test for #mucopolysaccharidoses in healthy #female #newborns.



In total, 930 urine samples obtained on 2nd and 3rd day from birth have been analyzed for the early diagnosis of Mucopolysaccharidoses.


Dimethylmethylene blue (DMB) assay and one-dimensional electrophoresis were performed in all urine samples. Agarose gel electrophoresis, before and after treatment with chondroitinase ABC and heparinases, was used for a comprehensive characterization.


Out of 930 urine samples 7 showed anomalous electrophoretic pattern; 5 of them had high GAG levels by DMB test. Atypical samples (n = 7) were analyzed by agarose gel electrophoresis. After enzymatic digestion, some slow bands were still visible. A second urine sample of the above 7 newborns was analyzed at the age of 1 month, demonstrating both a normal pattern and normal GAG levels. Additional urine and vaginal mucus samples from 10 term neonates with vaginal bleeding showed the same electrophoretic pattern observed in the 7 false positive samples.


The altered electrophoretic pattern may be due to the presence of glycoproteins and not to specific GAGs, due to high levels of maternal hormones exposure during pregnancy. To our knowledge, this is the first time maternal estrogen hormones are proposed as a likely cause of false-positive urinary glycosaminoglycan screen test in healthy newborns.